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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs4420638

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr19:44919689 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.17176 (21567/125568, TOPMED)
G=0.1937 (5958/30766, GnomAD)
G=0.151 (756/5008, 1000G) (+ 3 more)
G=0.177 (793/4480, Estonian)
G=0.186 (716/3854, ALSPAC)
G=0.174 (644/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
APOC1 : 500B Downstream Variant
Publications
148 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 19 NC_000019.10:g.44919689A>G
GRCh37.p13 chr 19 NC_000019.9:g.45422946A>G
APOC1 RefSeqGene NG_012859.1:g.10026A>G
Gene: APOC1, apolipoprotein C1 (plus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
APOC1 transcript variant 2 NM_001321065.1:c. N/A Downstream Transcript Variant
APOC1 transcript variant 3 NM_001321066.1:c. N/A Downstream Transcript Variant
APOC1 transcript variant 1 NM_001645.4:c. N/A Downstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 171890 )
ClinVar Accession Disease Names Clinical Significance
RCV000190314.1 not provided Not-Provided
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 A=0.82824 G=0.17176
gnomAD - Genomes Global Study-wide 30766 A=0.8063 G=0.1937
gnomAD - Genomes European Sub 18348 A=0.7998 G=0.2002
gnomAD - Genomes African Sub 8698 A=0.798 G=0.202
gnomAD - Genomes East Asian Sub 1608 A=0.886 G=0.114
gnomAD - Genomes Other Sub 976 A=0.78 G=0.22
gnomAD - Genomes American Sub 834 A=0.89 G=0.11
gnomAD - Genomes Ashkenazi Jewish Sub 302 A=0.85 G=0.15
1000Genomes Global Study-wide 5008 A=0.849 G=0.151
1000Genomes African Sub 1322 A=0.780 G=0.220
1000Genomes East Asian Sub 1008 A=0.901 G=0.099
1000Genomes Europe Sub 1006 A=0.802 G=0.198
1000Genomes South Asian Sub 978 A=0.90 G=0.10
1000Genomes American Sub 694 A=0.90 G=0.10
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.823 G=0.177
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.814 G=0.186
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.826 G=0.174
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Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= G Note
GRCh38.p12 chr 19 NC_000019.10:g.44919689A= NC_000019.10:g.44919689A>G
GRCh37.p13 chr 19 NC_000019.9:g.45422946A= NC_000019.9:g.45422946A>G
APOC1 RefSeqGene NG_012859.1:g.10026A= NG_012859.1:g.10026A>G
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

90 SubSNP, 6 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss5917105 Feb 20, 2003 (111)
2 AFFY ss66185226 Nov 30, 2006 (136)
3 ILLUMINA ss74978067 Dec 07, 2007 (129)
4 AFFY ss76254879 Dec 08, 2007 (136)
5 KRIBB_YJKIM ss82036004 Dec 15, 2007 (130)
6 HUMANGENOME_JCVI ss96308989 Feb 06, 2009 (130)
7 RSG_UW ss107936514 Feb 06, 2009 (130)
8 ENSEMBL ss143968698 Dec 01, 2009 (131)
9 ILLUMINA ss160678579 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss168244196 Jul 04, 2010 (132)
11 AFFY ss172992896 Jul 04, 2010 (136)
12 ILLUMINA ss173730727 Jul 04, 2010 (132)
13 PAGE_STUDY ss181341877 Jul 04, 2010 (132)
14 PAGE_STUDY ss181834214 Jul 04, 2010 (132)
15 PAGE_STUDY ss181836040 Jul 04, 2010 (132)
16 BUSHMAN ss203765889 Jul 04, 2010 (132)
17 GMI ss283224166 May 04, 2012 (137)
18 1000GENOMES ss340491331 May 09, 2011 (134)
19 ILLUMINA ss410933426 Sep 17, 2011 (135)
20 PAGE_STUDY ss469414595 May 04, 2012 (136)
21 ILLUMINA ss480943096 May 04, 2012 (137)
22 ILLUMINA ss480962653 May 04, 2012 (137)
23 ILLUMINA ss481928791 Sep 08, 2015 (146)
24 ILLUMINA ss485266468 May 04, 2012 (137)
25 EXOME_CHIP ss491549558 May 04, 2012 (137)
26 ILLUMINA ss537234969 Sep 08, 2015 (146)
27 TISHKOFF ss566007639 Apr 25, 2013 (138)
28 SSMP ss661874643 Apr 25, 2013 (138)
29 ILLUMINA ss778535902 Aug 21, 2014 (142)
30 ILLUMINA ss780685059 Aug 21, 2014 (142)
31 ILLUMINA ss783079165 Aug 21, 2014 (142)
32 ILLUMINA ss783358535 Aug 21, 2014 (142)
33 ILLUMINA ss784036824 Aug 21, 2014 (142)
34 ILLUMINA ss832337455 Apr 01, 2015 (144)
35 ILLUMINA ss833992475 Aug 21, 2014 (142)
36 EVA-GONL ss994339260 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1081930497 Aug 21, 2014 (142)
38 1000GENOMES ss1363326499 Aug 21, 2014 (142)
39 DDI ss1428413950 Apr 01, 2015 (144)
40 KYOTOUNIVOPHTHALMOL ss1537037935 Jan 12, 2015 (142)
41 EVA_GENOME_DK ss1578653666 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1638043782 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1681037815 Apr 01, 2015 (144)
44 EVA_DECODE ss1698394218 Apr 01, 2015 (144)
45 EVA_SVP ss1713664905 Apr 01, 2015 (144)
46 ILLUMINA ss1752288236 Sep 08, 2015 (146)
47 ILLUMINA ss1752288237 Sep 08, 2015 (146)
48 HAMMER_LAB ss1809326005 Sep 08, 2015 (146)
49 ILLUMINA ss1917938928 Feb 12, 2016 (147)
50 WEILL_CORNELL_DGM ss1937835913 Feb 12, 2016 (147)
51 ILLUMINA ss1946537665 Feb 12, 2016 (147)
52 ILLUMINA ss1959869724 Feb 12, 2016 (147)
53 JJLAB ss2029695363 Sep 14, 2016 (149)
54 ILLUMINA ss2094804142 Dec 20, 2016 (150)
55 USC_VALOUEV ss2158238135 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2226012922 Dec 20, 2016 (150)
57 TOPMED ss2391821407 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2629344318 Nov 08, 2017 (151)
59 ILLUMINA ss2633544216 Nov 08, 2017 (151)
60 ILLUMINA ss2633544217 Nov 08, 2017 (151)
61 ILLUMINA ss2633544218 Nov 08, 2017 (151)
62 GRF ss2702851427 Nov 08, 2017 (151)
63 ILLUMINA ss2710884172 Nov 08, 2017 (151)
64 GNOMAD ss2963331202 Nov 08, 2017 (151)
65 AFFY ss2985144695 Nov 08, 2017 (151)
66 AFFY ss2985775665 Nov 08, 2017 (151)
67 SWEGEN ss3017540893 Nov 08, 2017 (151)
68 ILLUMINA ss3021911649 Nov 08, 2017 (151)
69 TOPMED ss3294333906 Nov 08, 2017 (151)
70 CSHL ss3352320732 Nov 08, 2017 (151)
71 ILLUMINA ss3625742896 Oct 12, 2018 (152)
72 ILLUMINA ss3627941641 Oct 12, 2018 (152)
73 ILLUMINA ss3627941642 Oct 12, 2018 (152)
74 ILLUMINA ss3631515228 Oct 12, 2018 (152)
75 ILLUMINA ss3633892020 Oct 12, 2018 (152)
76 ILLUMINA ss3634738118 Oct 12, 2018 (152)
77 ILLUMINA ss3634738119 Oct 12, 2018 (152)
78 ILLUMINA ss3635578767 Oct 12, 2018 (152)
79 ILLUMINA ss3636425155 Oct 12, 2018 (152)
80 ILLUMINA ss3637330517 Oct 12, 2018 (152)
81 ILLUMINA ss3638229888 Oct 12, 2018 (152)
82 ILLUMINA ss3640445426 Oct 12, 2018 (152)
83 ILLUMINA ss3640445427 Oct 12, 2018 (152)
84 ILLUMINA ss3643202431 Oct 12, 2018 (152)
85 ILLUMINA ss3644726180 Oct 12, 2018 (152)
86 BIOINF_KMB_FNS_UNIBA ss3645522875 Oct 12, 2018 (152)
87 URBANLAB ss3650925133 Oct 12, 2018 (152)
88 ILLUMINA ss3652337759 Oct 12, 2018 (152)
89 ILLUMINA ss3652337760 Oct 12, 2018 (152)
90 ILLUMINA ss3653917442 Oct 12, 2018 (152)
91 1000Genomes NC_000019.9 - 45422946 Oct 12, 2018 (152)
92 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 45422946 Oct 12, 2018 (152)
93 Genetic variation in the Estonian population NC_000019.9 - 45422946 Oct 12, 2018 (152)
94 gnomAD - Genomes NC_000019.9 - 45422946 Oct 12, 2018 (152)
95 TopMed NC_000019.10 - 44919689 Oct 12, 2018 (152)
96 UK 10K study - Twins NC_000019.9 - 45422946 Oct 12, 2018 (152)
97 ClinVar RCV000190314.1 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs41377151 Aug 25, 2014 (136)
rs56487544 Dec 02, 2009 (131)
rs59077868 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss160678579, ss168244196, ss203765889, ss283224166, ss410933426, ss480943096, ss1698394218, ss1713664905, ss3643202431 NC_000019.8:50114785:A:G NC_000019.10:44919688:A:G (self)
76739044, 42493991, 30025005, 97032732, 42493991, ss340491331, ss480962653, ss481928791, ss485266468, ss491549558, ss537234969, ss566007639, ss661874643, ss778535902, ss780685059, ss783079165, ss783358535, ss784036824, ss832337455, ss833992475, ss994339260, ss1081930497, ss1363326499, ss1428413950, ss1578653666, ss1638043782, ss1681037815, ss1752288236, ss1752288237, ss1809326005, ss1917938928, ss1937835913, ss1946537665, ss1959869724, ss2029695363, ss2094804142, ss2158238135, ss2391821407, ss2629344318, ss2633544216, ss2633544217, ss2633544218, ss2702851427, ss2710884172, ss2963331202, ss2985144695, ss2985775665, ss3017540893, ss3021911649, ss3352320732, ss3625742896, ss3627941641, ss3627941642, ss3631515228, ss3633892020, ss3634738118, ss3634738119, ss3635578767, ss3636425155, ss3637330517, ss3638229888, ss3640445426, ss3640445427, ss3644726180, ss3652337759, ss3652337760, ss3653917442 NC_000019.9:45422945:A:G NC_000019.10:44919688:A:G (self)
RCV000190314.1, 181978911, ss1537037935, ss2226012922, ss3294333906, ss3645522875, ss3650925133 NC_000019.10:44919688:A:G NC_000019.10:44919688:A:G (self)
ss5917105, ss66185226, ss74978067, ss76254879, ss82036004, ss96308989, ss107936514, ss143968698, ss172992896, ss173730727, ss181341877, ss181834214, ss181836040, ss469414595 NT_011109.16:17691163:A:G NC_000019.10:44919688:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

148 citations for rs4420638
PMID Title Author Year Journal
17474819 A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. Coon KD et al. 2007 The Journal of clinical psychiatry
17998437 Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Li H et al. 2008 Archives of neurology
18161859 Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13? Blom ES et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
18179892 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Wallace C et al. 2008 American journal of human genetics
18193044 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Kathiresan S et al. 2008 Nature genetics
18262040 LDL-cholesterol concentrations: a genome-wide association study. Sandhu MS et al. 2008 Lancet (London, England)
18802019 Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. Burkhardt R et al. 2008 Arteriosclerosis, thrombosis, and vascular biology
18852197 Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. Mohlke KL et al. 2008 Human molecular genetics
18941475 On Jim Watson's APOE status: genetic information is hard to hide. Nyholt DR et al. 2009 European journal of human genetics
18976728 Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. Bertram L et al. 2008 American journal of human genetics
19060906 Common variants at 30 loci contribute to polygenic dyslipidemia. Kathiresan S et al. 2009 Nature genetics
19060910 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Sabatti C et al. 2009 Nature genetics
19161620 An open access database of genome-wide association results. Johnson AD et al. 2009 BMC medical genetics
19197348 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Lowe JK et al. 2009 PLoS genetics
19204163 GAB2 as an Alzheimer disease susceptibility gene: follow-up of genomewide association results. Schjeide BM et al. 2009 Archives of neurology
19265542 Performance of random forest when SNPs are in linkage disequilibrium. Meng YA et al. 2009 BMC bioinformatics
19336475 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. Drenos F et al. 2009 Human molecular genetics
19336575 Genetic analysis of coronary artery disease single-nucleotide polymorphisms in diabetic nephropathy. McKnight AJ et al. 2009 Nephrology, dialysis, transplantation
19389868 The coronary artery disease SNP, rs4420638, is associated with diabetic nephropathy rather than end-stage renal disease. Buckham T et al. 2009 Nephrology, dialysis, transplantation
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Hindorff LA et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
19557197 NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. Heard-Costa NL et al. 2009 PLoS genetics
19567438 Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. Elliott P et al. 2009 JAMA
19569043 Genome-wide association studies and the genetic dissection of complex traits. Sebastiani P et al. 2009 American journal of hematology
19729614 Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular risk. Musunuru K et al. 2009 Arteriosclerosis, thrombosis, and vascular biology
19750184 Genome-wide association studies for atherosclerotic vascular disease and its risk factors. Ding K et al. 2009 Circulation. Cardiovascular genetics
19756043 A simple and efficient algorithm for genome-wide homozygosity analysis in disease. Liu W et al. 2009 Molecular systems biology
19773416 A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women. Hamrefors V et al. 2010 Journal of lipid research
19818961 Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm. Golledge J et al. 2010 Atherosclerosis
19951432 Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. Ronald J et al. 2009 Lipids in health and disease
20018036 Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes. Hamid JS et al. 2009 BMC proceedings
20031591 Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III. Keebler ME et al. 2009 Circulation. Cardiovascular genetics
20236449 Genetics of Alzheimer disease in the pre- and post-GWAS era. Ertekin-Taner N et al. 2010 Alzheimer's research & therapy
20309761 Genotype-based risk and pharmacogenetic sampling in clinical trials. Schork NJ et al. 2010 Journal of biopharmaceutical statistics
20339536 Genome-wide association of lipid-lowering response to statins in combined study populations. Barber MJ et al. 2010 PloS one
20442857 Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. Suchindran S et al. 2010 PLoS genetics
20460622 Genome-wide analysis of genetic loci associated with Alzheimer disease. Seshadri S et al. 2010 JAMA
20498921 APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men. Ken-Dror G et al. 2010 Molecular medicine (Cambridge, Mass.)
20529013 APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation. Beecham GW et al. 2010 Annals of human genetics
20594621 The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Guerreiro RJ et al. 2012 Neurobiology of aging
20679960 Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients. Hu M et al. 2010 Pharmacogenetics and genomics
20691829 Joint effects of common genetic variants from multiple genes and pathways on the risk of premature coronary artery disease. Anderson JL et al. 2010 American heart journal
20839009 Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica. Gupta R et al. 2010 Human genetics
20864672 Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Waterworth DM et al. 2010 Arteriosclerosis, thrombosis, and vascular biology
20972250 Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. Park MH et al. 2011 Journal of medical genetics
21041806 Genetic determinants of plasma triglycerides. Johansen CT et al. 2011 Journal of lipid research
21118897 Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. Kenny EE et al. 2011 Human molecular genetics
21124753 Alzheimer's disease: diagnostics, prognostics and the road to prevention. Grossman I et al. 2010 The EPMA journal
21127830 Genetic associations in diabetic nephropathy: a meta-analysis. Mooyaart AL et al. 2011 Diabetologia
21146954 Genes and abdominal aortic aneurysm. Hinterseher I et al. 2011 Annals of vascular surgery
21149302 Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population. Liu Y et al. 2011 Journal of lipid research
21217833 A knowledge-based weighting framework to boost the power of genome-wide association studies. Li MX et al. 2010 PloS one
21300955 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Dehghan A et al. 2011 Circulation
21460841 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Naj AC et al. 2011 Nature genetics
21466885 Evaluation of the gene-age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: the impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent. Shirts BH et al. 2011 Atherosclerosis
21537386 Using In silico LD clumping and meta-analysis of genome-wide datasets as a complementary tool to investigate and validate new candidate biomarkers in Alzheimer's disease. Medway C et al. 2010 International journal of molecular epidemiology and genetics
21537449 Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis. Webster J et al. 2010 International journal of molecular epidemiology and genetics
21645382 A note on the use of the generalized odds ratio in meta-analysis of association studies involving bi- and tri-allelic polymorphisms. Pereira TV et al. 2011 BMC research notes
21672907 The application of naive Bayes model averaging to predict Alzheimer's disease from genome-wide data. Wei W et al. 2011 Journal of the American Medical Informatics Association
21738485 Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study. Dumitrescu L et al. 2011 PLoS genetics
21804106 Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration. Angelakopoulou A et al. 2012 European heart journal
21825236 Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Cruchaga C et al. 2011 Archives of neurology
21829380 Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. Sanna S et al. 2011 PLoS genetics
21853025 A bayesian method for evaluating and discovering disease loci associations. Jiang X et al. 2011 PloS one
21860704 Implications of discoveries from genome-wide association studies in current cardiovascular practice. Jeemon P et al. 2011 World journal of cardiology
21862702 Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. Calandra S et al. 2011 Journal of lipid research
21875899 Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour. Peden JF et al. 2011 Human molecular genetics
21937998 Single-nucleotide polymorphisms at five loci are associated with C-reactive protein levels in a cohort of Filipino young adults. Curocichin G et al. 2011 Journal of human genetics
21943158 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. Middelberg RP et al. 2011 BMC medical genetics
22003152 Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. Grallert H et al. 2012 European heart journal
22005931 Genome-wide association analysis of age-at-onset in Alzheimer's disease. Kamboh MI et al. 2012 Molecular psychiatry
22022282 A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. Avery CL et al. 2011 PLoS genetics
22054870 A genome-wide scan for common variants affecting the rate of age-related cognitive decline. De Jager PL et al. 2012 Neurobiology of aging
22073310 Association of genetic loci with blood lipids in the Chinese population. Zhang Z et al. 2011 PloS one
22159054 A comprehensive genetic association study of Alzheimer disease in African Americans. Logue MW et al. 2011 Archives of neurology
22195117 Evaluating de novo locus-disease discoveries in GWAS using the signal-to-noise ratio. Jiang X et al. 2011 AMIA ... Annual Symposium proceedings. AMIA Symposium
22273362 Data mining of high density genomic variant data for prediction of Alzheimer's disease risk. Briones N et al. 2012 BMC medical genetics
22291609 A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. Naitza S et al. 2012 PLoS genetics
22368281 Genome-wide association study of genetic determinants of LDL-c response to atorvastatin therapy: importance of Lp(a). Deshmukh HA et al. 2012 Journal of lipid research
22425169 Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol. Shirts BH et al. 2012 Atherosclerosis
22492993 C-reactive protein (CRP) promoter polymorphisms influence circulating CRP levels in a genome-wide association study of African Americans. Doumatey AP et al. 2012 Human molecular genetics
22499766 The search for longevity and healthy aging genes: insights from epidemiological studies and samples of long-lived individuals. Murabito JM et al. 2012 The journals of gerontology. Series A, Biological sciences and medical sciences
22567092 MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS. O'Reilly PF et al. 2012 PloS one
22623978 A replication study of GWAS-derived lipid genes in Asian Indians: the chromosomal region 11q23.3 harbors loci contributing to triglycerides. Braun TR et al. 2012 PloS one
22958594 Golgi phosphoprotein 2 in physiology and in diseases. Kim HJ et al. 2012 Cell & bioscience
22994408 Transferability and fine mapping of genome-wide associated loci for lipids in African Americans. Adeyemo A et al. 2012 BMC medical genetics
23098650 Impact of variants within seven candidate genes on statin treatment efficacy. Vrablík M et al. 2012 Physiological research
23100282 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. Hopewell JC et al. 2013 European heart journal
23101478 Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study. Povel CM et al. 2012 Cardiovascular diabetology
23119086 Variants identified in a GWAS meta-analysis for blood lipids are associated with the lipid response to fenofibrate. Aslibekyan S et al. 2012 PloS one
23150898 Evaluation of seven common lipid associated loci in a large Indian sib pair study. Rafiq S et al. 2012 Lipids in health and disease
23236286 Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems. Mercader JM et al. 2012 PLoS genetics
23284720 Using family-based imputation in genome-wide association studies with large complex pedigrees: the Framingham Heart Study. Chen MH et al. 2012 PloS one
23286790 Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study. Beekman M et al. 2013 Aging cell
23393188 Genome-wide analysis of LXRα activation reveals new transcriptional networks in human atherosclerotic foam cells. Feldmann R et al. 2013 Nucleic acids research
23455636 Seven new loci associated with age-related macular degeneration. Fritsche LG et al. 2013 Nature genetics
23588940 Association of polymorphisms modulating low-density lipoprotein cholesterol with susceptibility, severity, and progression of rheumatoid arthritis. Park YJ et al. 2013 The Journal of rheumatology
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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post104+4a6ee9c